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Cellosaurus UMGi126-A.12 (CVCL_A4UE)

[Text version]
Cell line name UMGi126-A.12
Synonyms GOEi098-A.12; isBrSd1.12
Accession CVCL_A4UE
Resource Identification Initiative To cite this cell line use: UMGi126-A.12 (RRID:CVCL_A4UE)
Comments From: University Medical Center Goettingen; Goettingen; Germany.
Caution: The University Medical Center Goettingen is not following the guidelines of hPSCreg regarding the naming of their cell lines: they are assigning a single name (here UMGi126-A) for a series of distinct clones.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 10582; SCN10A; Simple; p.Arg1250Gln (c.3749G>A); ClinVar=VCV000221068; Zygosity=Heterozygous (PubMed=31106349).
  • Mutation; HGNC; 10582; SCN10A; Simple; p.Arg1268Gln (c.3803G>A); ClinVar=VCV000240673; Zygosity=Heterozygous (PubMed=31106349).
Disease Brugada syndrome (NCIt: C142891)
Brugada syndrome (ORDO: Orphanet_130)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A4UD ! UMGi126-A.9
CVCL_A4UF ! UMGi126-A.13
Sex of cell Male
Age at sampling 52Y
Category Induced pluripotent stem cell
Web pages https://sfb1002.med.uni-goettingen.de/production/cellmodel/cell-line/view?tab=internal&line=171
Publications

PubMed=31106349; DOI=10.1093/europace/euz122
El-Battrawy I., Albers S., Cyganek L., Zhao Z.-H., Lan H., Li X., Xu Q., Kleinsorge M., Huang M.-Y., Liao Z.-X., Zhong R.-J., Rudic B., Muller J., Dinkel H., Lang S., Diecke S., Zimmermann W.-H., Utikal J.S., Wieland T., Borggrefe M., Zhou X.-B., Akin I.
A cellular model of Brugada syndrome with SCN10A variants using human-induced pluripotent stem cell-derived cardiomyocytes.
Europace 21:1410-1421(2019)

Cross-references
Cell line databases/resources hPSCreg; UMGi126-A
Encyclopedic resources Wikidata; Q107117308
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5